Verena Klämbt

发表

Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.

S. Mane, S. Bauer, V. Tasic, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Kristen M. Laricchia, Thomas M. Kitzler, D. MacArthur, 2020, American journal of human genetics.

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.

Thomas M. Kitzler, S. Mane, R. Lifton, 2020, American journal of human genetics.

Multisystem Inflammation and Susceptibility to Viral infections in Human ZNFX1 Deficiency.

H. Omran, R. Geha, J. Chou, 2021, The Journal of allergy and clinical immunology.

Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches

Thomas M. Kitzler, S. Mane, H. Rehm, 2020, Kidney international reports.

A Novel Function for P2Y2 in Myeloid Recipient–Derived Cells during Graft-versus-Host Disease

M. Idzko, M. Prinz, A. Schmitt-Graeff, 2015, The Journal of Immunology.

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

Thomas M. Kitzler, V. Jobanputra, D. Goldstein, 2021, American journal of human genetics.

Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)

S. Bauer, V. Tasic, F. Hildebrandt, 2020, Genetics in Medicine.

Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

Thomas M. Kitzler, S. Mane, R. Lifton, 2020, Kidney international reports.

CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.

Richard S. Lee, S. Mane, S. Ellard, 2019, American journal of human genetics.

A CRISPR-based assay for the detection of opportunistic infections post-transplantation and for the monitoring of transplant rejection

Jacqueline A. Valeri, J. Azzi, F. Marty, 2020, Nature Biomedical Engineering.

Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.

S. Mane, P. Kane, R. Lifton, 2019, Kidney international.

Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice

S. Mane, S. Howden, R. Lifton, 2021, Science Advances.

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.

M. Skalej, S. Mane, R. Lifton, 2021, Journal of the American Society of Nephrology : JASN.

A CRISPR-based assay for the detection of opportunistic infections post-transplantation and for the monitoring of transplant rejection

Jacqueline A. Valeri, J. Collins, J. Azzi, 2020, Nature Biomedical Engineering.

Different approaches to long-term treatment of aHUS due to MCP mutations: a multicenter analysis

J. König, B. Lange-Sperandio, S. Loos, 2020, Pediatric Nephrology.

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs

Shrikant Mane, R. Lifton, M. Zegers, 2022, Journal of the American Society of Nephrology : JASN.

Ribavirin therapy of hepatitis E infection may cause hyporegenerative anemia in pediatric renal transplant patients

M. Seidl, Verena Klämbt, M. Panning, 2018, Pediatric transplantation.